Evaluating the User Experience of a Smartphone-Delivered Sexual Health Promotion Program for Older Adults in the Netherlands: Single-Arm Pilot Study.

BACKGROUND: Sexual health is an important component of quality of life in older adults. However, older adults often face barriers to attaining a fulfilling sexual life because of issues such as stigma, lack of information, or difficult access to adequate support. OBJECTIVE: We aimed to evaluate the user experience of a self-guided, smartphone-delivered program to promote sexual health among older adults. METHODS: The mobile app was made available to community-dwelling older adults in the Netherlands, who freely used the app for 8 weeks. User experience and its respective components were assessed using self-developed questionnaires, the System Usability Scale, and semistructured interviews. Quantitative and qualitative data were descriptively and thematically analyzed, respectively. RESULTS: In total, 15 participants (mean age 71.7, SD 9.5 years) completed the trial. Participants showed a neutral to positive stance regarding the mobile app's usefulness and ease of use. Usability was assessed as "Ok/Fair." The participants felt confident about using the mobile app. To increase user experience, participants offered suggestions to improve content and interaction, including access to specialized sexual health services. CONCLUSIONS: The sexual health promotion program delivered through a smartphone in a self-guided mode was usable. Participants' perception is that improvements to user experience, namely in content and interaction, as well as connection to external services, will likely improve usefulness and acceptance.

Feasibility and Acceptability of Pediatric Smartphone Lung Auscultation by Parents: Cross-Sectional Study.

Background: The use of a smartphone built-in microphone for auscultation is a feasible alternative to the use of a stethoscope, when applied by physicians. Objective: This cross-sectional study aims to assess the feasibility of this technology when used by parents-the real intended end users. Methods: Physicians recruited 46 children (male: n=33, 72%; age: mean 11.3, SD 3.1 y; children with asthma: n=24, 52%) during medical visits in a pediatric department of a tertiary hospital. Smartphone auscultation using an app was performed at 4 locations (trachea, right anterior chest, and right and left lung bases), first by a physician (recordings: n=297) and later by a parent (recordings: n=344). All recordings (N=641) were classified by 3 annotators for quality and the presence of adventitious sounds. Parents completed a questionnaire to provide feedback on the app, using a Likert scale ranging from 1 ("totally disagree") to 5 ("totally agree"). Results: Most recordings had quality (physicians' recordings: 253/297, 85.2%; parents' recordings: 266/346, 76.9%). The proportions of physicians' recordings (34/253, 13.4%) and parents' recordings (31/266, 11.7%) with adventitious sounds were similar. Parents found the app easy to use (questionnaire: median 5, IQR 5-5) and were willing to use it (questionnaire: median 5, IQR 5-5). Conclusions: Our results show that smartphone auscultation is feasible when performed by parents in the clinical context, but further investigation is needed to test its feasibility in real life.

Assessment of patient-reported outcomes measures in heart failure: a systematic review.

Heart failure (HF) is a prevalent global disease, particularly impacting developed countries. With the world's aging population, HF's impact on the quantity and quality of life is expected to grow. This review aims to ascertain the frequency, characteristics, and properties of all patient-reported outcomes measures (PROMs) studied in HF patients. We searched Ovid/Medline and Web of Science for original articles about PROMs performed in adults with HF. Using pre-established quality criteria for measurement properties, an overall rating was assigned to evaluate and compare different instruments. The quality of evidence was assessed with the COSMIN risk of bias checklist. Of 4283 records identified, we reviewed 296 full-text documents and included 64 papers, involving 30,185 participants. Thirty different PROMs were identified, with 14 specifically designed for HF being the most commonly used. Minnesota Living with Heart Failure (MLHF) and Kansas City Cardiomyopathy Questionnaire (KCCQ) were evaluated 16 and 13 times, respectively, demonstrating good psychometric properties. The MacNew Heart Disease Health-Related Quality of Life Questionnaire, a common heart disease-specific instrument, exhibited negative performances across various psychometric measures. Evidence for generic instruments was scant and unremarkable and they proved to be less responsive in HF populations. MLHF and KCCQ emerged as the most commonly used and well-supported PROMs, with robust overall evidence. They are comprehensive and accurate instruments, particularly suitable for application in clinical practice and research. Future research should explore how computer-adapted instruments can enhance precision, reduce respondent burden, and improve communication between clinicians and patients, thereby promoting more efficient and patient-centered services.

The socioeconomic epidemiology of inherited retinal diseases in Portugal.

BACKGROUND: Inherited retinal diseases (IRDs) are a group of rare degenerative disorders of the retina that can lead to blindness from birth to late middle age. Knowing the target population and its resources is essential to better plan support measures. The aim of this study was to evaluate the socioeconomic characteristics of regions in Portugal where IRD patients reside to inform the planning of vision aid and rehabilitation intervention measures. RESULTS: This study included 1082 patients from 973 families, aged 3 to 92 years, with a mean age of 44.8 ± 18.1 years. Patients living with an IRD were identified in 190 of the 308 municipalities. According to this study, the estimated IRD prevalence in Portugal was 10.4 per 100,000 inhabitants, and by municipalities, it ranged from 0 to 131.2 per 100,000 inhabitants. Overall, regions with a higher prevalence of IRD have a lower population density (r=-0.371, p < 0.001), a higher illiteracy rate (r = 0.404, p < 0.001) and an overall older population (r = 0.475, p < 0.001). Additionally, there is a lower proportion of doctor per capita (r = 0.350, p < 0.001), higher social security pensions beneficiaries (r = 0.439, p < 0.001), worse water quality for human consumption (r=-0.194, p = 0.008), fewer audiences at the cinema (r=-0.315, p < 0.001) and lower proportion of foreign guests in tourist accommodations (r=-0.287, p < 0.001). CONCLUSION: The number of identified patients with IRD varied between regions. Using data from national statistics (PORDATA), we observed differences in socioeconomic characteristics between regions. Multiple targeted aid strategies can be developed to ensure that all IRD patients are granted full clinical and socioeconomic support.

Detection of elusive DNA copy-number variations in hereditary disease and cancer through the use of noncoding and off-target sequencing reads.

Copy-number variants (CNVs) play a substantial role in the molecular pathogenesis of hereditary disease and cancer, as well as in normal human interindividual variation. However, they are still rather difficult to identify in mainstream sequencing projects, especially involving exome sequencing, because they often occur in DNA regions that are not targeted for analysis. To overcome this problem, we developed OFF-PEAK, a user-friendly CNV detection tool that builds on a denoising approach and the use of "off-target" DNA reads, which are usually discarded by sequencing pipelines. We benchmarked OFF-PEAK on data from targeted sequencing of 96 cancer samples, as well as 130 exomes of individuals with inherited retinal disease from three different populations. For both sets of data, OFF-PEAK demonstrated excellent performance (>95% sensitivity and >80% specificity vs. experimental validation) in detecting CNVs from in silico data alone, indicating its immediate applicability to molecular diagnosis and genetic research.

Paradoxical activation of oncogenic signaling as a cancer treatment strategy.

Cancer homeostasis depends on a balance between activated oncogenic pathways driving tumorigenesis and engagement of stress-response programs that counteract the inherent toxicity of such aberrant signaling. While inhibition of oncogenic signaling pathways has been explored extensively, there is increasing evidence that overactivation of the same pathways can also disrupt cancer homeostasis and cause lethality. We show here that inhibition of Protein Phosphatase 2A (PP2A) hyperactivates multiple oncogenic pathways and engages stress responses in colon cancer cells. Genetic and compound screens identify combined inhibition of PP2A and WEE1 as synergistic in multiple cancer models by collapsing DNA replication and triggering premature mitosis followed by cell death. This combination also suppressed the growth of patient-derived tumors in vivo. Remarkably, acquired resistance to this drug combination suppressed the ability of colon cancer cells to form tumors in vivo. Our data suggest that paradoxical activation of oncogenic signaling can result in tumor suppressive resistance.

Knowledge distillation on individual vertebrae segmentation exploiting 3D U-Net.

Recent advances in medical imaging have highlighted the critical development of algorithms for individual vertebral segmentation on computed tomography (CT) scans. Essential for diagnostic accuracy and treatment planning in orthopaedics, neurosurgery and oncology, these algorithms face challenges in clinical implementation, including integration into healthcare systems. Consequently, our focus lies in exploring the application of knowledge distillation (KD) methods to train shallower networks capable of efficiently segmenting vertebrae in CT scans. This approach aims to reduce segmentation time, enhance suitability for emergency cases, and optimize computational and memory resource efficiency. Building upon prior research in the field, a two-step segmentation approach was employed. Firstly, the spine's location was determined by predicting a heatmap, indicating the probability of each voxel belonging to the spine. Subsequently, an iterative segmentation of vertebrae was performed from the top to the bottom of the CT volume over the located spine, using a memory instance to record the already segmented vertebrae. KD methods were implemented by training a teacher network with performance similar to that found in the literature, and this knowledge was distilled to a shallower network (student). Two KD methods were applied: (1) using the soft outputs of both networks and (2) matching logits. Two publicly available datasets, comprising 319 CT scans from 300 patients and a total of 611 cervical, 2387 thoracic, and 1507 lumbar vertebrae, were used. To ensure dataset balance and robustness, effective data augmentation methods were applied, including cleaning the memory instance to replicate the first vertebra segmentation. The teacher network achieved an average Dice similarity coefficient (DSC) of 88.22% and a Hausdorff distance (HD) of 7.71 mm, showcasing performance similar to other approaches in the literature. Through knowledge distillation from the teacher network, the student network's performance improved, with an average DSC increasing from 75.78% to 84.70% and an HD decreasing from 15.17 mm to 8.08 mm. Compared to other methods, our teacher network exhibited up to 99.09% fewer parameters, 90.02% faster inference time, 88.46% shorter total segmentation time, and 89.36% less associated carbon (CO2) emission rate. Regarding our student network, it featured 75.00% fewer parameters than our teacher, resulting in a 36.15% reduction in inference time, a 33.33% decrease in total segmentation time, and a 42.96% reduction in CO2 emissions. This study marks the first exploration of applying KD to the problem of individual vertebrae segmentation in CT, demonstrating the feasibility of achieving comparable performance to existing methods using smaller neural networks.

SIV Infection Is Associated with Transient Acute-Phase Steatosis in Hepatocytes In Vivo.

Metabolic-dysfunction-associated fatty liver disease (MAFLD) is a major cause of morbidity and mortality in HIV-infected individuals, even those receiving optimal antiretroviral therapy. Here, we utilized the SIV rhesus macaque model and advanced laparoscopic techniques for longitudinal collection of liver tissue to elucidate the timing of pathologic changes. The livers of both SIV-infected (N = 9) and SIV-naïve uninfected (N = 8) macaques were biopsied and evaluated at four time points (weeks -4, 2, 6, and 16-20 post-infection) and at necropsy (week 32). SIV DNA within the macaques' livers varied by over 4 logs at necropsy, and liver SIV DNA significantly correlated with SIV RNA in the plasma throughout the study. Acute phase liver pathology (2 weeks post-infection) was characterized by evidence for fat accumulation (microvesicular steatosis), a transient elevation in both AST and cholesterol levels within the serum, and increased hepatic expression of the PPARA gene associated with cholesterol metabolism and beta oxidation. By contrast, the chronic phase of the SIV infection (32 weeks post-infection) was associated with sinusoidal dilatation, while steatosis resolved and concentrations of AST and cholesterol remained similar to those in uninfected macaques. These findings suggest differential liver pathologies associated with the acute and chronic phases of infection and the possibility that therapeutic interventions targeting metabolic function may benefit liver health in people newly diagnosed with HIV.

Knee landmarks detection via deep learning for automatic imaging evaluation of trochlear dysplasia and patellar height.

OBJECTIVES: To develop and validate a deep learning-based approach to automatically measure the patellofemoral instability (PFI) indices related to patellar height and trochlear dysplasia in knee magnetic resonance imaging (MRI) scans. METHODS: A total of 763 knee MRI slices from 95 patients were included in the study, and 3393 anatomical landmarks were annotated for measuring sulcus angle (SA), trochlear facet asymmetry (TFA), trochlear groove depth (TGD) and lateral trochlear inclination (LTI) to assess trochlear dysplasia, and Insall-Salvati index (ISI), modified Insall-Salvati index (MISI), Caton Deschamps index (CDI) and patellotrochlear index (PTI) to assess patellar height. A U-Net based network was implemented to predict the landmarks' locations. The successful detection rate (SDR) and the mean absolute error (MAE) evaluation metrics were used to evaluate the performance of the network. The intraclass correlation coefficient (ICC) was also used to evaluate the reliability of the proposed framework to measure the mentioned PFI indices. RESULTS: The developed models achieved good accuracy in predicting the landmarks' locations, with a maximum value for the MAE of 1.38 ± 0.76 mm. The results show that LTI, TGD, ISI, CDI and PTI can be measured with excellent reliability (ICC > 0.9), and SA, TFA and MISI can be measured with good reliability (ICC > 0.75), with the proposed framework. CONCLUSIONS: This study proposes a reliable approach with promising applicability for automatic patellar height and trochlear dysplasia assessment, assisting the radiologists in their clinical practice. CLINICAL RELEVANCE STATEMENT: The objective knee landmarks detection on MRI images provided by artificial intelligence may improve the reproducibility and reliability of the imaging evaluation of trochlear anatomy and patellar height, assisting radiologists in their clinical practice in the patellofemoral instability assessment. KEY POINTS: • Imaging evaluation of patellofemoral instability is subjective and vulnerable to substantial intra and interobserver variability. • Patellar height and trochlear dysplasia are reliably assessed in MRI by means of artificial intelligence (AI). • The developed AI framework provides an objective evaluation of patellar height and trochlear dysplasia enhancing the clinical practice of the radiologists.

Single Step Isolation of Extracellular Vesicles from Large-Volume Samples with a Bifurcated A4F Microfluidic Device.

Extracellular vesicles (EVs) hold immense potential for various biomedical applications, including diagnostics, drug delivery, and regenerative medicine. Nevertheless, the current methodologies for isolating EVs present significant challenges, such as complexity, time consumption, and the need for bulky equipment, which hinders their clinical translation. To address these limitations, we aimed to develop an innovative microfluidic system based on cyclic olefin copolymer-off-stoichiometry thiol-ene (COC-OSTE) for the efficient isolation of EVs from large-volume samples in a continuous manner. By utilizing size and buoyancy-based separation, the technology used in this study achieved a significantly narrower size distribution compared to existing approaches from urine and cell media samples, enabling the targeting of specific EV size fractions in future applications. Our innovative COC-OSTE microfluidic device design, utilizing bifurcated asymmetric flow field-flow fractionation technology, offers a straightforward and continuous EV isolation approach for large-volume samples. Furthermore, the potential for mass manufacturing of this microfluidic device offers scalability and consistency, making it feasible to integrate EV isolation into routine clinical diagnostics and industrial processes, where high consistency and throughput are essential requirements.

Have we improved postoperative and long-term outcomes of liver surgery for colorectal cancer metastasis? Analysis of 1736 hepatectomies performed over 3 decades in a single center.

INTRODUCTION: Surgery is the only potentially curative treatment for colorectal cancer liver metastases (CRLM) and its indication and results have varied in the last 30 years. METHODS: All patients operated on for CRLM in our centre from 1990 to 2021 were prospectively collected, establishing 3 subgroups based on the year of the first surgery: group A 1990-1999, group B 2000-2010, group C 2011-2021. Clinical characteristics and the results of survival, recurrence and prognostic factors were compared. RESULTS: 1736 hepatectomies were included (Group A n = 208; Group B n = 770; Group C n = 758). Patients in group C had better survival at 5 and 10 years (A 40.5%/28.2%; B 45.9%/32.2%; C 51.6%/33.1%, p = 0.013), although there were no differences between groups in overall recurrence at 5 and 10 years (A 73%/75.7%; B 67.6%/69.2%, and C 63.9%/66%, p = 0.524), nor in liver recurrence (A 46.4%/48.2%; B 45.8%/48.2%; and C 44.4%/48.4%, p = 0.899). An improvement was observed in median survival after recurrence, being 19 months, 23 months, and 31 months (groups A, B and C respectively). Prognostic factors of long-term survival changed over the 3 study periods. The only ones that remained relevant in the last decade were the presence of >4 liver metastasis, extrahepatic disease at the time of hepatectomy, and intraoperative blood transfusion. CONCLUSIONS: Survival after surgery for CRLM has improved significantly, although this cannot be explained by a reduction in overall and hepatic recurrence, but rather by an improvement in post-recurrence survival. Involvement of the resection margin has lost prognostic value in the last decade.

Primary gastric squamous cell carcinoma: case report.

Primary gastric squamous cell carcinoma is an extremely rare entity with an unknown etiopathology, and prognosis is generally poor. While diagnostic criteria are standardized, the optimal treatment strategy is not defined due to its rarity. In this article, we present a case of primary gastric squamous cell carcinoma, discussing its approach and treatment.

Genetic profile of syndromic retinitis pigmentosa in Portugal.

PURPOSE: Retinitis pigmentosa (RP) comprises a genetically and clinically heterogeneous group of inherited retinal degenerations, where 20-30% of patients exhibit extra-ocular manifestations (syndromic RP). Understanding the genetic profile of RP has important implications for disease prognosis and genetic counseling. This study aimed to characterize the genetic profile of syndromic RP in Portugal. METHODS: Multicenter, retrospective cohort study. Six Portuguese healthcare providers identified patients with a clinical diagnosis of syndromic RP and available genetic testing results. All patients had been previously subjected to a detailed ophthalmologic examination and clinically oriented genetic testing. Genetic variants were classified according to the American College of Medical Genetics and Genomics; only likely pathogenic or pathogenic variants were considered relevant for disease etiology. RESULTS: One hundred and twenty-two patients (53.3% males) from 100 families were included. Usher syndrome was the most frequent diagnosis (62.0%), followed by Bardet-Biedl (19.0%) and Senior-Løken syndromes (7.0%). Deleterious variants were identified in 86/100 families for a diagnostic yield of 86.0% (87.1% for Usher and 94.7% for Bardet-Biedl). A total of 81 genetic variants were identified in 25 different genes, 22 of which are novel. USH2A and MYO7A were responsible for most type II and type I Usher syndrome cases, respectively. BBS1 variants were the cause of Bardet-Biedl syndrome in 52.6% of families. Best-corrected visual acuity (BCVA) records were available at baseline and last visit for 99 patients (198 eyes), with a median follow-up of 62.0 months. The mean BCVA was 56.5 ETDRS letters at baseline (Snellen equivalent ~ 20/80), declining to 44.9 ETDRS letters (Snellen equivalent ~ 20/125) at the last available follow-up (p < 0.001). CONCLUSION: This is the first multicenter study depicting the genetic profile of syndromic RP in Portugal, thus contributing toward a better understanding of this heterogeneous disease group. Usher and Bardet-Biedl syndromes were found to be the most common types of syndromic RP in this large Portuguese cohort. A high diagnostic yield was obtained, highlighting current genetic testing capabilities in providing a molecular diagnosis to most affected individuals. This has major implications in determining disease-related prognosis and providing targeted genetic counseling for syndromic RP patients in Portugal.

Digital biomarkers of mobility and quality of life in Parkinson's disease based on a wearable motion analysis LAB.

BACKGROUND AND OBJECTIVE: Functional mobility, an indicator of the quality of life (QoL), requires fast and flexible changes during motion, which are limited in Parkinson's disease (PD). Recent body-worn sensors have emerged in the last decades as potential solutions to produce digital biomarkers able to quantify mobility outside routine consultations and during real-life scenarios for multiple days at a time. The proposed research aims to study the ability of a wearable motion analysis lab, developed by our team, to produce digital biomarkers of mobility and QoL levels in patients with PD. METHODS: A cross-sectional study was followed, including 40 patients stratified into three subgroups according to a clinic motor examination and a QoL questionnaire. RESULTS: The achieved outcomes demonstrate the ability of the proposed high-tech solution to measure prototypical gait impairments and discriminate motor condition (AUC=0,890) and patients' QoL levels (AUC=0,950). Also, from the measured multiple gait-associated parameters, we identified the variables with the most potential to be applied as digital biomarkers of mobility (67 % of the metrics) and QoL (72 % of the metrics) in PD. CONCLUSIONS: Overall, we confirmed our hypothesis of using our body-worn sensor-based solution for passive or active monitoring of mobility and QoL in PD to produce objective, feasible, and continuous digital biomarkers.

Development and validation of the PERCEPT-PREVENT tool to determine risk perception and attitudes towards digestive cancer screening.

BACKGROUND AND AIMS: Colorectal cancer (CRC) screening is recommended worldwide, while gastric cancer (GC) screening may also be defendable in some settings. However, adherence rates and factors influencing participation are not well characterized. This study aimed to validate a tool to determine risk perception of CRC and GC and also of endoscopy-related complications. METHODS: A questionnaire in CRC risk perception based on the Health Belief Model was used. Forward/backward translation (English-Portuguese) and cultural adaptation were performed. After revision by a panel of experts, the questionnaire was adapted to target GC risk perception and perceptions towards endoscopy-related complications. The final version of the questionnaire (PERCEPT-PREVENT tool) was applied to 44 individuals, through telephonic interview, at enrolment and at intervals ≤3 weeks. Test-retest reliability and agreement were assessed. RESULTS: Almost perfect reliability between test and retest was obtained for CRC symptom knowledge score (ICC = 0.88), risk factor knowledge score (ICC = 0.89), and perceived severity (ICC = 0.84). At least moderate agreement between test and retest was obtained for GC symptom knowledge score (ICC = 0.94), risk factor knowledge score (ICC = 0.92), and perceived severity (ICC = 0.58). Test-retest reliability was assessed for barrier domains [faecal occult blood test ICC = 0.63; colonoscopy ICC = 0.79; upper GI endoscopy (UGIE) ICC = 0.83]. A total of 91% and 98% of participants gave the same answer in the test and retest for preferred method of CRC screening and intention to undergo UGIE for GC screening combined with a screening colonoscopy, respectively. DISCUSSION: PERCEPT-PREVENT is a valid and reliable tool for CRC and GC risk perception evaluation.

Validation of potential RNA biomarkers for prostate cancer diagnosis and monitoring in plasma and urinary extracellular vesicles.

Introduction: Prostate cancer (PCa), one of the most prevalent malignancies affecting men worldwide, presents significant challenges in terms of early detection, risk stratification, and active surveillance. In recent years, liquid biopsies have emerged as a promising non-invasive approach to complement or even replace traditional tissue biopsies. Extracellular vesicles (EVs), nanosized membranous structures released by various cells into body fluids, have gained substantial attention as a source of cancer biomarkers due to their ability to encapsulate and transport a wide range of biological molecules, including RNA. In this study, we aimed to validate 15 potential RNA biomarkers, identified in a previous EV RNA sequencing study, using droplet digital PCR. Methods: The candidate biomarkers were tested in plasma and urinary EVs collected before and after radical prostatectomy from 30 PCa patients and their diagnostic potential was evaluated in a test cohort consisting of 20 benign prostate hyperplasia (BPH) and 20 PCa patients' plasma and urinary EVs. Next, the results were validated in an independent cohort of plasma EVs from 31 PCa and 31 BPH patients. Results: We found that the levels of NKX3-1 (p = 0.0008) in plasma EVs, and tRF-Phe-GAA-3b (p < 0.0001) tRF-Lys-CTT-5c (p < 0.0327), piR-28004 (p = 0.0081) and miR-375-3p (p < 0.0001) in urinary EVs significantly decreased after radical prostatectomy suggesting that the main tissue source of these RNAs is prostate and/or PCa. Two mRNA biomarkers-GLO1 and NKX3-1 showed promising diagnostic potential in distinguishing between PCa and BPH with AUC of 0.68 and 0.82, respectively, in the test cohort and AUC of 0.73 and 0.65, respectively, in the validation cohort, when tested in plasma EVs. Combining these markers in a biomarker model yielded AUC of 0.85 and 0.71 in the test and validation cohorts, respectively. Although the PSA levels in the blood could not distinguish PCa from BPH in our cohort, adding PSA to the mRNA biomarker model increased AUC from 0.71 to 0.76. Conclusion: This study identified two novel EV-enclosed RNA biomarkers-NKX3-1 and GLO1-for the detection of PCa, and highlights the complementary nature of GLO1, NKX3-1 and PSA as combined biomarkers in liquid biopsies of PCa.

Validation of the Portuguese version of the supportive care needs survey short-form questionnaire (SCNS-SF34-Pt) and the breast cancer supplementary module (SCNS-BR8-Pt).

OBJECTIVE: This study aimed to test the psychometric properties of the Portuguese Supportive Care Needs Survey-Short Form-34 (SCNS-SF34-Pt) and its breast cancer-specific complementary module (SCNS-BR8-Pt). A further aim was to characterize Portuguese Breast Cancer Survivors' (BCS) unmet supportive care needs, using these measures. METHODS: A convenient sample of BCS was recruited from five hospitals in Portugal and invited to complete SCNS-SF34-Pt and SCNS-BR8-Pt, EORTCQLQC30 and QLQBR23, the Generalized Anxiety Disorder, and the Patient Health-Questionnaire. The validity (i.e. convergent, discriminant and convergent validity) and reliability of SCNS-SF34-Pt and SCNS-BR8-Pt were statistically evaluated. BCS' unmet supportive care needs were descriptively assessed. FINDINGS: 336 BCS participated in the study. A four-factor solution was produced for SCNS-SF34-Pt. This solution included the Physical and daily living needs, Psychological needs, Sexuality needs, and Health system, information, and patient support needs dimensions (73% of the total variance; Cronbach's alpha=.82 to .97). SCNS-SF34-Pt demonstrated good convergent validity. It could also discriminate between known-groups regarding age, disease staging, treatment performed, and ECOG performance status. SCNS-BR8-Pt revealed a single-factor structure (62% of the total variance; Cronbach's alpha=.91).Portuguese BCS' most prevalent unmet supportive care needs were associated with the Psychological, and Physical and daily living domains. Fear of cancer spreading, the inability to do things as usual, and lack of energy/tiredness were perceived as issues requiring further supportive care. CONCLUSIONS: SCNS-SF34-Pt and the SCNS-BR8-Pt are valid and reliable tools to assess Portuguese BCS' unmet supportive care needs. Fear of cancer spreading and lack of energy/tiredness concerns should be a target of supportive care services.

The Evolution of Psychological Distress Levels in University Students in Spain during Different Stages of the COVID-19 Pandemic: Risk and Protective Factors.

The present study assesses the evolution of stressful events and psychological distress in male and female students over three different time periods of the COVID-19 pandemic in Spain: the initial "lockdown", with no face-to-face teaching; the "new normality" period, when classes were resumed; and two years after the first wave of the pandemic. The participants were 1200 Spanish university students who were assessed for psychological distress, COVID-19-associated stressful events, social support, and self-esteem. Female students reported more stressful events and higher levels of psychological distress than male students during the "lockdown" and "new normality" time periods of the first wave of the pandemic. However, these differences disappeared in the third period tested, two years after the first wave of the pandemic, with female and male students showing no differences in psychological distress or in the number of stressful events. The main risk predictors of psychological distress during the first wave of the pandemic were lower self-esteem and having suffered a high number of stressful events. The last variable, number of stressful events associated with COVID-19, lost most its effect two years later, when only self-esteem presented a strong and highly significant predictive role.

Complete mitochondrial DNA profile in stroke: A geographical matched case-control study in Spanish population.

INTRODUCTION: Stroke, the second leading cause of death worldwide, is a complex disease influenced by many risk factors among which we can find reactive oxygen species (ROS). Since mitochondria are the main producers of cellular ROS, nowadays studies are trying to elucidate the role of these organelles and its DNA (mtDNA) variation in stroke risk. The aim of the present study was to perform a comprehensive evaluation of the association between mtDNA mutations and mtDNA content and stroke risk. MATERIAL AND METHODS: Homoplasmic and heteroplasmic mutations of the mtDNA were analysed in a case-controls study using 110 S cases and their corresponding control individuals. Mitochondrial DNA copy number (mtDNA-CN) was analysed in 73 of those case-control pairs. RESULTS: Our results suggest that haplogroup V, specifically variants m.72C > T, m.4580G > A, m.15904C > T and m.16298 T > C have a protective role in relation to stroke risk. On the contrary, variants m.73A > G, m.11719G > A and m.14766C > T appear to be genetic risk factors for stroke. In this study, we found no statistically significant association between stroke risk and mitochondrial DNA copy number. CONCLUSIONS: These results demonstrate the possible role of mtDNA genetics on the pathogenesis of stroke, probably through alterations in mitochondrial ROS production.

Trace Elements in Portuguese Children: Urinary Levels and Exposure Predictors.

Exposure to environmental chemicals during developmental stages can result in several adverse outcomes. In this study, the exposure of Portuguese children to Cu, Co, I, Mo, Mn, Ni, As, Sb, Cd, Pb, Sn and Tl was evaluated through the analysis of first morning urine through ICP-MS. Furthermore, we attempted to determine possible exposure predictors. The study sample consisted of 54% girls and 46% boys, with a median age of 10 years; 61% were overweight/obese and were put on a nutritionally oriented diet. For I, half of the population was probably in deficiency status. The median urinary concentrations (µg/L) were Cu 21.9, Mo 54.6, Co 0.76, Mn 2.1, Ni 4.74, As 37.9, Sb 0.09, Cd 0.29, Pb 0.94, Sn 0.45, Tl 0.39 and I 125.5. The region was a significant predictor for Cu, Co, Ni, As and Tl. Children living in an urban area had higher urinary levels, except for Co and Ni. Age was a significant predictor for Cu, I, Mo, Mn, Ni, Sb, Cd and Sn with urinary levels of these elements decreasing with age. No sex-related differences were observed. Diet and weight group were predictors for urinary Cu, Mn, Ni, Sb and As. Significant differences were observed between the diet/weight groups for Cu, Ni, Sb and As, with the healthy diet group presenting higher values.